학술논문
'학술논문'
에서 검색결과 31건 | 목록
1~10
Academic Journal
Fennell, A.P.; Hunter, M.F.; Baxter, A.E.; Berkovic, S.F.; Hildebrand, M.S.; Regan, B.M.; Scheffer, I.E.; Ellaway, C.J.; Forwood, C.; Mowat, D.; Kumble, S.; Stark, Z.; Stutterd, C.A.; Tan, T.Y.; Wilkins, E.J.; Yeung, A.; McKeown, C.; Poke, G.; Rajagopalan, S.
In: American Journal of Medical Genetics, Part A . (American Journal of Medical Genetics, Part A, December 2022, 188(12):3432-3447)
Academic Journal
Hurley, E.N.; Johnson, A.M.; Truong, L.; Lawson, J.A.; Ellaway, C.J.; Gordon, R.; Galettis, P.; Martin, J.H.
In: Epilepsia . (Epilepsia, July 2022, 63(7):1736-1747)
PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families
Academic Journal
Guimier, A.; Moreau de Bellaing, A.; de Pontual, L.; Dimartino, C.; Gordon, C.T.; Amiel, J.; Achleitner, M.T.; van den Broek, F.; Wortmann, S.B.; Mayr, J.A.; Bajolle, F.; Edwards, M.; Brett, L.; Homfray, T.; Morris-Rosendahl, D.J.; Mittal, K.; Cameron, J.; Chatterjee, D.; Koopmann, T.T.; Rafiq, M.A.; Hamilton, R.M.; Dunn, K.E.; Grove, M.E.; Fisk, D.G.; Tysoe, C.J.; Kanthi, A.; Shukla, A.; Girisha, K.M.; Alston, C.L.; Knowles, C.V.; McFarland, R.; Taylor, R.W.; Till, J.A.; French, P.; McGowan, R.; Spentzou, G.; McLeod, K.; Ahimaz, P.; Chung, W.K.; Elserafy, N.A.; Lichkus, K.S.; Sankaran, B.P.; Ellaway, C.J.; Kennedy, H.L.; George, P.M.; Kidd, A.; Merker, J.D.; Parikh, S.; Weintraub, R.G.; Ma, A.S.; Turner, C.; Phillips, L.K.; Thorburn, D.R.; Kana, S.L.; Faye-Petersen, O.M.; Thompson, M.L.; Janin, A.; Hurst, A.C.E.; Turner, C.L.S.; Doudney, K.
In: Genetics in Medicine . (Genetics in Medicine, December 2021, 23(12):2415-2425)
Academic Journal
van Rijt, W.J.; Jager, E.A.; van Spronsen, F.; Derks, T.G.J.; Allersma, D.P.; Aktuğlu Zeybek, A.Ç.; Bhattacharya, K.; Ellaway, C.J.; Debray, F.-G.; Gautschi, M.; Geraghty, M.T.; Gil-Ortega, D.; Larson, A.A.; Van Hove, J.L.K.; Moore, F.; Morava, E.; Witters, P.; Morris, A.A.; Oishi, K.; Schiff, M.; Scholl-Bürgi, S.; Tchan, M.C.; Vockley, J.; Wortmann, S.B.
In: Genetics in Medicine . (Genetics in Medicine, 1 May 2020, 22(5):908-916)
Academic Journal
Guimier, A.; Achleitner, M.T.; Moreau de Bellaing, A.; Edwards, M.; de Pontual, L.; Mittal, K.; Dunn, K.E.; Grove, M.E.; Tysoe, C.J.; Dimartino, C.; Cameron, J.; Kanthi, A.; Shukla, A.; van den Broek, F.; Chatterjee, D.; Alston, C.L.; Knowles, C.V.; Brett, L.; Till, J.A.; Homfray, T.; French, P.; Spentzou, G.; Elserafy, N.A.; Lichkus, K.S.; Sankaran, B.P.; Kennedy, H.L.; George, P.M.; Kidd, A.; Wortmann, S.B.; Fisk, D.G.; Koopmann, T.T.; Rafiq, M.A.; Merker, J.D.; Parikh, S.; Ahimaz, P.; Weintraub, R.G.; Ma, A.S.; Turner, C.; Ellaway, C.J.; Phillips, L.K.; Thorburn, D.R.; Chung, W.K.; Kana, S.L.; Faye-Petersen, O.M.; Thompson, M.L.; Janin, A.; McLeod, K.; McGowan, R.; McFarland, R.; Girisha, K.M.; Morris-Rosendahl, D.J.; Hurst, A.C.E.; Turner, C.L.S.; Hamilton, R.M.; Taylor, R.W.; Bajolle, F.; Gordon, C.T.; Amiel, J.; Mayr, J.A.; Doudney, K.
In: Genetics in Medicine . (Genetics in Medicine, April 2022, 24(4):967)
Academic Journal
In: European Journal of Human Genetics . (European Journal of Human Genetics, 14 September 2015, 23(9):1171-1175)
Academic Journal
Ellaway, C.J.; Collins, F.; Darmanian, A.; Peters, G.B.; Christodoulou, J.; Ho, G.; Bettella, E.; Knapman, A.; Hackett, A.; McKenzie, F.; Fagan, K.
In: European Journal of Human Genetics . (European Journal of Human Genetics, May 2013, 21(5):522-527)
Academic Journal
Ellaway, C.J.; Collins, F.; Peters, G.B.; Christodoulou, J.; Ho, G.; Knapman, A.; Bettella, E.; Hackett, A.; McKenzie, F.; Darmanian, A.; Fagan, K.
In: European Journal of Human Genetics . (European Journal of Human Genetics, In Press, 12 September 2012)
Academic Journal
White, R.; Ho, G.; Schmidt, S.; Ellaway, C.J.; Darmanian, A.; Tong, X.; Cloosterman, D.; Bennetts, B.; Christodoulou, J.; Scheffer, I.E.; Fischer, A.; Yendle, S.C.; Bienvenu, T.; Nectoux, J.; Kalra, V.; Fullston, T.; Gecz, J.; Cox, T.C.
In: Twin Research and Human Genetics . (Twin Research and Human Genetics, April 2010, 13(2):168-178)
Academic Journal
In: Journal of Inherited Metabolic Disease . (Journal of Inherited Metabolic Disease, 2008, 31(4):503-507)
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[AR] Ellaway, C.J.
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